Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112949145T= , CM000674.2:g.112949145T=	GRCh38
NC_000012.11:g.113386950T= , CM000674.1:g.113386950T=	GRCh37
NC_000012.10:g.111871333T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228928.12:c.1314T= MANE Select	ENSP00000228928.7:p.Ile438=
ENST00000546638.2:n.1321T=
ENST00000679354.1:c.1236T=	ENSP00000505880.1:p.Ile412=
ENST00000679483.1:c.1299+15T=	ENSP00000505798.1:n.1299+15T=
ENST00000679493.1:c.1314T=	ENSP00000506397.1:p.Ile438=
ENST00000679505.1:c.*965T=	ENSP00000506118.1:n.*965T=
ENST00000679517.1:c.*589T=	ENSP00000506294.1:n.*589T=
ENST00000679547.1:c.*737T=	ENSP00000506567.1:n.*737T=
ENST00000679562.1:c.*965T=	ENSP00000505418.1:n.*965T=
ENST00000679812.1:c.1314T=	ENSP00000505154.1:p.Ile438=
ENST00000679912.1:c.1314T=	ENSP00000504871.1:p.Ile438=
ENST00000680044.1:c.1314T=	ENSP00000505627.1:p.Ile438=
ENST00000680090.1:c.1314T=	ENSP00000506611.1:p.Ile438=
ENST00000680153.1:n.776T=
ENST00000680161.1:c.1299+15T=	ENSP00000506045.1:n.1299+15T=
ENST00000680177.1:c.1314T=	ENSP00000505925.1:p.Ile438=
ENST00000680293.1:c.1314T=	ENSP00000505651.1:p.Ile438=
ENST00000680438.1:c.1314T=	ENSP00000505969.1:p.Ile438=
ENST00000681002.1:c.1314T=	ENSP00000506106.1:p.Ile438=
ENST00000681007.1:c.1314T=	ENSP00000505477.1:p.Ile438=
ENST00000681105.1:n.2616T=
ENST00000681134.1:c.1314T=	ENSP00000506146.1:p.Ile438=
ENST00000681346.1:c.1314T=	ENSP00000505939.1:p.Ile438=
ENST00000681497.1:c.1314T=	ENSP00000505225.1:p.Ile438=
ENST00000681527.1:n.1340T=
ENST00000681572.1:c.*415T=	ENSP00000505912.1:n.*415T=
ENST00000681594.1:c.1314T=	ENSP00000506365.1:p.Ile438=
ENST00000681665.1:n.1106+1046T=
ENST00000681764.1:c.1314T=	ENSP00000506335.1:p.Ile438=
ENST00000228928.11:c.1314T=	ENSP00000228928.7:p.Ile438=
NM_006187.3:c.1314T=	NP_006178.2:p.Ile438=
XM_005253889.2:c.1314T=	XP_005253946.1:p.Ile438=
XM_005253889.4:c.1314T=	XP_005253946.1:p.Ile438=
XM_017019363.2:c.1314T=	XP_016874852.1:p.Ile438=
NM_006187.4:c.1314T= MANE Select	NP_006178.2:p.Ile438=